A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv52n64



Internal ID22780961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13201400..13332766hg38UCSC Ensembl
chr5:13201512..13332878hg19UCSC Ensembl
chr5:13254512..13385878hg18UCSC Ensembl
chr5:13254512..13385878hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38131367
hg19131367
hg18131367
hg17131367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv818317, nsv818318
SamplesNA10863, NA12234
Known Genes
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)dgv52n64
Frequency
Sample Size112
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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